Canonical Allele Identifier: CA2187454921
Gene: LOXL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.73930023_73930024delinsCT , CM000677.2:g.73930023_73930024delinsCT GRCh38
NC_000015.9:g.74222364_74222365delinsCT , CM000677.1:g.74222364_74222365delinsCT GRCh37
NC_000015.8:g.72009417_72009418delinsCT NCBI36
NG_011466.1:g.8576_8577delinsCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000261921.8:c.1102+2138_1102+2139delinsCT MANE Select ENSP00000261921.7:n.1102+2138_1102+2139delinsCT
ENST00000261921.7:c.1102+2138_1102+2139delinsCT ENSP00000261921.7:n.1102+2138_1102+2139delinsCT
ENST00000566011.5:c.1102+2138_1102+2139delinsCT ENSP00000457827.1:n.1102+2138_1102+2139delinsCT
NM_005576.2:c.1102+2138_1102+2139delinsCT NP_005567.2:n.1102+2138_1102+2139delinsCT
XM_011521555.1:c.1102+2138_1102+2139delinsCT XP_011519857.1:n.1102+2138_1102+2139delinsCT
XR_931824.1:n.1435+2138_1435+2139delinsCT
NM_005576.3:c.1102+2138_1102+2139delinsCT NP_005567.2:n.1102+2138_1102+2139delinsCT
XM_011521555.2:c.1102+2138_1102+2139delinsCT XP_011519857.1:n.1102+2138_1102+2139delinsCT
XR_931824.2:n.1424+2138_1424+2139delinsCT
NM_005576.4:c.1102+2138_1102+2139delinsCT MANE Select NP_005567.2:n.1102+2138_1102+2139delinsCT